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PubPharm (100)
1
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG
enthalten in:
Molecular genetics and metabolism
| 2023
von
Zdrazilova, L.
|
Rakosnikova, T.
|
Himmelreich, N.
| +7
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2
In response to : Fatal status epilepticus-the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer : Regarding our manuscript: Novel variants in the NARS2 gene as a cause of infantile onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review
enthalten in:
Neurogenetics
| 2022
von
Štěrbová, K.
|
Vlčková, M.
|
Hansíková, H.
| +4
CommentOn: Neurogenetics. 2021 Oct;22(4):359-364. - PMID 34415467
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3
In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer
enthalten in:
Neurogenetics
| 2021
von
Štěrbová, K.
|
Vlčková, M.
|
Hansíková, H.
| +4
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4
In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer
enthalten in:
Neurogenetics
| 2021
von
Štěrbová, K.
|
Vlčková, M.
|
Hansíková, H.
| +4
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5
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus : case study and literature review
enthalten in:
Neurogenetics
| 2021
von
Štěrbová, K.
|
Vlčková, M.
|
Hansíková, H.
| +4
CommentIn: Neurogenetics. 2022 Jan;23(1):73-74. - PMID 34779985
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6
Mitophagy in Huntington's disease
enthalten in:
Neurochemistry international
| 2021
von
Šonský, I.
|
Vodička, P.
|
Vodičková Kepková, K.
| +1
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7
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review
enthalten in:
Neurogenetics
| 2021
von
Štěrbová, K.
|
Vlčková, M.
|
Hansíková, H.
| +4
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8
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review
enthalten in:
Neurogenetics
| 2021
von
Štěrbová, K.
|
Vlčková, M.
|
Hansíková, H.
| +4
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9
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review
enthalten in:
Neurogenetics
| 2021
von
Štěrbová, K.
|
Vlčková, M.
|
Hansíková, H.
| +4
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10
A new role for dolichol isoform profile in the diagnostics of CDG disorders
enthalten in:
Clinica chimica acta; international journal of clinical chemistry
| 2020
von
Zdrazilova, L.
|
Kuchar, L.
|
Ondruskova, N.
| +2
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Journal of inherited metabolic disease
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EC 1.9.3.1
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Electron Transport Complex IV
11
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7
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4
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4
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4
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4
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4
Whole exome sequencing
3
789U1901C5
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